commentary
January 2008 䡠 Vol. 10 䡠 No. 1
Health care in the age of genetic medicine
James P. Evans, MD, PhD
Occasionally the emergence of new technology or knowledge propels medicine across a threshold that is so monumental it mandates changes in the structure of health care delivery.
In the 20th century, a deep understanding of infectious diseases and cardiovascular risk factors triggered such changes,
stimulating action at the governmental and population levels
with the creation of organizations such as the Centers for Disease Control and Prevention and departments of public health.
Today, medical science is at another such threshold with the
advent of individualized medicine. Driven by advances in
genomics, emerging insight into each individual’s unique susceptibility to disease promises to transform patient care. However, such advances will also compel a fundamental restructuring of the way medical care is delivered in the United States.
There are many reasons to pursue a rational, just, and workable system of health care for the millions of United States
citizens who have no health insurance and for the insured for
whom the cost of medical care is a constant threat to financial
security.1 The potential success of genomic medicine provides a
series of additional compelling arguments to embrace a system of
care that provides universal coverage and broadly pools risk. It is
no small irony that the emergence of individualized medicine ultimately mandates a shared approach to health care delivery.
Modern health insurance is based on the tenet that it is possible to accurately predict aggregate risk but much more difficult to predict individual risk. For instance, insurance actuaries
can reliably estimate the percentage of a population that will
develop breast cancer, but because they are unable to predict
precisely which individuals will develop it, resources are
pooled, enrollees pay similar premiums, and all derive benefit.
However, the emergence of individualized medicine, driven
primarily by advances in the ability to dissect the individual’s
genome, undermines this traditional system. By learning to
identify an individual’s risk, that individual becomes less attractive to insure for the very maladies for which they require
coverage. Pending legislation, such as the Genetic Information
Non-Discrimination Act2 will help limit genetic cherry-picking by insurers and is critically important. However, in a fragmented health care system, such potential remedies ultimately
run the risk of simply shifting the inequity back to insurers by
Reprinted with permission from the Journal of the American Medical Association, volume
298, pages 2670 –2672. Copyright © 2007, American Medical Association. All Rights reserved.
From the Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill,
North Carolina.
James P. Evans, Professor of Genetics and Medicine, Department of Genetics, CB#7264,
University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7264; E-mail:
[email protected].
Disclosure: The author declares no conflict of interest.
DOI: 10.1097/GIM.0b013e318164c669
Genetics IN Medicine
enabling individuals to select coverage based on their own specific risks. Either way, the foundation of the system is undermined; the solution is for all to pool their risks.
Individualized Medicine and Prevention
One of the promises of individualized medicine is the possibility of engaging in a level of preventive care that far exceeds
current abilities. Screening programs are, by their very nature,
inefficient because an entire population is subjected to screening while relatively few individuals benefit and some are actually harmed.3 This inherent inefficiency is expensive for both
the individual (in terms of morbidity) and for society (in terms
of cost).
With increases in the ability to parse individual risk, screening programs for everything from heart disease to cancer can
be more efficiently tailored, resulting in possible savings of
time and money and reduced morbidity. However, genetic
predispositions being discovered by such means as whole-genome association studies are often modest, typically demonstrating odds ratios of less than 2. Although the emerging ability to assess numerous risks may eventually provide clinically
actionable information for the individual, even in the absence
of such optimistic scenarios, it is important to remember that
screening is essentially a public health endeavor. In this sense,
individualized medicine offers the potential for better targeting of populations so screening efforts can be used more efficiently.
However, the current health care delivery system is poorly
equipped to incentivize prevention. Most United States citizens who have medical insurance stay with a given carrier for
an average of less than 6 years.4,5 Thus, in the present system
individual insurers are unlikely to be paying for an enrollee 10
or 20 years hence and therefore have little real motive to engage
in long-term preventive care. A system of universal coverage
with broadly shared risk could reap the benefits of individualized medicine at the population level and could provide potent
incentives for the long task ahead of further defining genetic
and environmental risks for common diseases.
Ubiquitous Mutations
Predictive genetic testing may lead to aggregate cost savings
through more efficient targeting of those at risk for disease. But
in the current system any such overall advantage comes at the
individual’s expense. The discovery of increased disease risk
typically mandates more intensive surveillance of that individual (usually with high-cost modalities) and subsequent treatment. The emergence of individualized medicine will amplify
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inequities of birth so that those born with a disease-predisposing mutation will bear the brunt of increased costs, whereas
those without such predispositions will seek less expensive
care. One’s attitude might be: “I’ll take my savings and run”
Setting aside the unsavory ethical implications of such an attitude, it is flawed by one of modern genetics’ most piercing
insights: every individual has mutations.
Each individual carries (eventually identifiable) genomic
risks for something. With an ever growing ability to link genotype to risk, all individuals will likely discover that their risk for
some future malady is increased; every person has preexisting
conditions. This inevitable bad news for individuals is actually
good news for the common lot and represents a compelling
inducement to share risk: because all are flawed at the level of
the genome, all people need each other.
The Emergence of Pharmacogenomics
The promise of pharmacogenomics is that specific subgroups of patients will be identified who are more or less likely
to receive benefit from a given agent, improving on the current
practice of broad, somewhat random prescribing of a medication to everyone with a given disorder. Thus, successful application of pharmacogenomics will inevitably fragment the markets for pharmaceuticals. Under the current balkanized system
of health care financing, this situation will burden patients,
insurers and the pharmaceutical industry with challenges that
will increase in direct proportion to the field’s success. Because
each individual’s insurance plan cannot be expected to have
the broad formularies necessary to reap the practical benefits of
pharmacogenomics, patients may be insured by plans that will
not provide reimbursement for a drug that could result in significantly improved care. This situation is undesirable from
the perspective of the patient and insurer alike and argues
strongly for pooling both risk and resources so patients have
access to an increasingly individualized formulary while insurers are spared endless petitions by patients for off-formulary
drugs.
Harnessing the potential of pharmacogenomics offers the
possibility of significant economic benefits. A recent estimate6
suggests that formally integrating genetic testing into routine
warfarin therapy in the United States could prevent 85,000
serious bleeding events and 17,000 strokes annually with a cost
savings of more than $1 billion per year. Unless broad access to
the right drug at the right dose for the right patient is ensured,
insurers profits will suffer along with patients because of avoidable complications and sub-therapeutic treatment.
The emergence of pharmacogenomics is understandably
not seen as an unalloyed good from the perspective of the pharmaceutical industry. Fragmentation of markets, wherein only
an identifiable subset of patients will benefit from a given
agent, necessarily decreases the market of potential consumers
of that drug. However, by unifying the health care delivery
system and expanding access to all individuals, the increased
number of patients who will require and have access to even a
“niche” drug may help offset the downsides of individualized
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medicine for this vital industry. Moreover, by eliminating fragmentation in the health care system and thereby enabling
pharmacogenomics to reach its full potential, drugs that previously failed to come to market may well be found to be safe
and effective for those individuals with the appropriate genetic
makeup.
Irrational Rationing
Healthcare in the United States is currently “rationed” in an
irrational and unjust manner based on circumstances of birth
and income. The emergence of individualized medicine could
make matters worse. Despite hopes to the contrary, genetically
based medicine may actually increase health care costs, in part
by finding previously unknown risks in large numbers of individuals who will require clinical intervention, usually in the
form of high-technology surveillance. This situation will add
to widespread demands for universal coverage as more individuals stand to benefit from genetically targeted care. On the
other hand, individualized medicine has the potential to reduce
the aggregate cost of health care by enabling better preventive
strategies. If such cost savings materialize, they will be primarily
population-based and thus most readily realized within a health
care system that is not fragmented. Whether individualized medicine will result in cost-savings or not remains an open question;
what can be predicted is that either outcome will provide potent
stimuli for universal care and shared risk.
A Genetic Underclass
Embracing individualized medicine without a corresponding commitment to broadly shared risk runs the risk of creating a genetically defined underclass which, because of inheriting more than a fair share of disease-susceptibility genes, is
unable to afford adequate care. This new genetically defined
underclass could transcend all social strata and, except for a
tiny number of individuals with truly exceptional resources,
the cost of medical care will be beyond this group’s reach. To
prevent a blossoming of irrational rationing and the emergence of a biologically defined group precluded from obtaining
proper care, it will be necessary to share risks and pool resources to ensure that, regardless of genetic makeup, a humane
and basic level of medical care will be available to all.
The Philosophical and Moral Imperative
Although universal health care will hardly be a panacea for
all the complex problems that affect health care delivery in the
United States, there are compelling practical reasons to pursue
it. The emergence of individualized medicine forcefully adds to
this imperative. But this burgeoning genetic knowledge also
has a profound moral dimension. The young science of medical genetics starkly illuminates the common lot, revealing in
the most vivid way possible that all people are in the same boat.
Every individual shares his/her genome with his or her fellow citizens and all are somehow genetically “flawed.” As
Genetics IN Medicine
professionals who will wield the potent new tool of genomic
medicine, physicians must insist that the boat is shared by
all and is just.
Acknowledgments
The author thanks Jonathan Oberlander, PhD (Department of
Social Medicine) and Cécile Skrzynia, MS, CGC (Department of
Genetics) at the University of North Carolina at Chapel Hill for
helpful discussions and suggestions. Neither of these individuals
received any compensation related to this study.
The author was supported during preparation and review of
the manuscript by NIH National Human Genetics Research
Institute, Grant P20HG03387.
January 2008 䡠 Vol. 10 䡠 No. 1
References
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txt.pdf. Accessed October 18, 2007.
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JAMA 2006;296:212–215.
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